There have been some references in the literature alluding to a new diagnosis called rhabdoid predisposition syndrome related to the gene hSNF5/INI1.

[citation needed] Recognition that both CNS atypical teratoid/rhabdoid tumours and MRTs have deletions of the INI1 gene in chromosome 22 indicates that rhabdoid tumours of the kidney and brain are identical or closely related entities, although the CNS variant tends to have its mutations on Taxon [medical citation needed] 9 and MRTs elsewhere.

This observation is not surprising because rhabdoid tumours at both locations possess similar histologic, clinical, and demographic features.

[4] In a recent study,[4] Single nucleotide polymorphism array karyotyping identified deletions or loss of heterozygosity (LOH) of 22q in 49/51 rhabdoid tumours.

SNP array karyotyping can be used to distinguish, for example, a medulloblastoma with an isochromosome 17q from a primary rhabdoid tumour with loss of 22q11.2.

[4] Regardless of location, all rhabdoid tumours are highly aggressive, have a poor prognosis, and tend to occur in children less than two years of age.